The Rare and Atypical Diabetes Network (RADIANT) Study: Design and Early Results
Authors: Ashok Balasubramanyam, Maria J. Redondo, William Craigen, Hongzheng Dai, Ansley Davis, Dimpi Desai, Monica Dussan, Jordana Faruqi, Ruchi Gaba, Iliana Gonzalez, Shalini Jhangiani, Elizabeth Kubota-Mishra, Pengfei Liu, David Murdock, Jennifer Posey, Nalini Ram, Aniko Sabo, Stephanie Sisley, Mustafa Tosur, Eric Venner, Marcela Astudillo, Adriana Cardenas, Mary Ann Fang, Erica Hattery, Adrienne Ideouzu, Julizza Jimenez, Nupur Kikani, Graciela Montes, Nikalina G. O’Brien, Lee-Jun Wong, Robin Goland, Wendy K. Chung, Anabel Evans, Rachelle Gandica, Rudolph Leibel, Kaisha Mofford, James Pring, Carmella Evans-Molina, Farrah Anwar, Gabriela Monaco, Anna Neyman, Zeb Saeed, Emily Sims, Maria Spall, Marimar Hernandez-Perez, Kieren Mather, Kelly Moors, Miriam S. Udler, Jose C. Florez, Melissa Calverley, Victoria Chen, Kathy Chu, Sara Cromer, Aaron Deutsch, Mariella Faciebene, Evelyn Greaux, Dorit Koren, Raymond Kreienkamp, Mary Larkin, William Marshall, Pam Ricevuto, Amy Sabean, Nopporn Thangthaeng, Christopher Han, Jordan Sherwood, Liana K. Billings, Mary Ann Banerji, Kylnt Bally, Necole Brown, Beisi Ji, Lina Soni, Melissa Lee, Jennifer Abrams, Lorraine Thomas, Jennifer Abrams, Samara Skiwiersky, Louis H. Philipson, Siri Atma W. Greeley, Graeme Bell, Shanna Banogon, Jui Desai, David Ehrmann, Lisa R. Letourneau-Freiberg, Rochelle N. Naylor, Erin Papciak, Lainie Friedman Ross, Manu Sundaresan, Colleen Bender, Persephone Tian, Neda Rasouli, Mohsen Bahmani Kashkouli, Chelsea Baker, Andrew Her, Courtney King, Avinash Pyreddy, Vatsala Singh, Jules Barklow, Noosha Farhat, Rebecca Lorch, Carter Odean, Gregory Schleis, Chantal Underkofler, Toni I. Pollin, Hadley Bryan, Kristin Maloney, Ryan Miller, Paula Newton, Maria Eleni Nikita, Devon Nwaba, Kristi Silver, Jessica Tiner, Hilary Whitlatch, Kathleen Palmer, Stephanie Riley, Elizabeth Streeten, Elif A. Oral, David Broome, Anabela Dill Gomes, Maria Foss de Freitas, Brigid Gregg, Seda Grigoryan, Salman Imam, Melda Sonmez Ince, Adam Neidert, Carman Richison, Baris Akinci, Rita Hench, John Buse, Chase Armstrong, Chad Christensen, Jamie Diner, Rachael Fraser, Karla Fulghum, Tahereh Ghorbani, Alex Kass, Klara Klein, M. Sue Kirkman, Irl B. Hirsch, Jesica Baran, Xiaofu Dong, Steven E. Kahn, Dori Khakpour, Patali Mandava, Lori Sameshima, Thanmai Kalerus, Catherine Pihoker, Beth Loots, Kathleen Santarelli, Cisco Pascual, Kevin Niswender, Norma Edwards, Justin Gregory, Alvin Powers, Andrea Ramirez, Jennifer Scott, Jordan Smith, Fumihiko Urano, Jing Hughes, Stacy Hurst, Janet McGill, Stephen Stone, Jennifer May, Jeffrey P. Krischer, Rajesh Adusumalli, Bruce Albritton, Analia Aquino, Paul Bransford, Nicholas Cadigan, Laura Gandolfo, Jennifer Garmeson, Joseph Gomes, Robert Gowing, Christina Karges, Callyn Kirk, Sarah Muller, Jean Morissette, Hemang M. Parikh, Francisco Perez-Laras, Cassandra L. Remedios, Pablo Ruiz, Noah Sulman, Michael Toth, Lili Wurmser, Christopher Eberhard, Steven Fiske, Brandy Hutchinson, Sidhvi Nekkanti, Rebecca Wood, Jose C. Florez, Ahmed Alkanaq, MacKenzie Brandes, Nöel Burtt, Jason Flannick, Phebe Olorunfemi, Miriam S. Udler, Lizz Caulkins, Clive Wasserfall, William Winter, David Pittman, Beena Akolkar, Christine Lee, David J. Carey, Daniel Hood, Santica M. Marcovina, Christopher B. Newgard
Journal: Diabetes Care (2023)

OBJECTIVE The Rare and Atypical Diabetes Network (RADIANT) will perform a study of individuals and, if deemed informative, a study of their family members with uncharacterized forms of diabetes. RESEARCH DESIGN AND METHODS The protocol includes genomic (whole-genome [WGS], RNA, and mitochondrial sequencing), phenotypic (vital signs, biometric measurements, questionnaires, and photography), metabolomics, and metabolic assessments. RESULTS Among 122 with WGS results of 878 enrolled individuals, a likely pathogenic variant in a known diabetes monogenic gene was found in 3 (2.5%), and six new monogenic variants have been identified in the SMAD5, PTPMT1, INS, NFKB1, IGF1R, and PAX6 genes. Frequent phenotypic clusters are lean type 2 diabetes, autoantibody-negative and insulin-deficient diabetes, lipodystrophic diabetes, and new forms of possible monogenic or oligogenic diabetes. CONCLUSIONS The analyses will lead to improved means of atypical diabetes identification. Genetic sequencing can identify new variants, and metabolomics and transcriptomics analysis can identify novel mechanisms and biomarkers for atypical disease.